Canonical Allele Identifier: CA10591037

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865211
• ClinVar RCV Id: RCV001072584 ; RCV003645160
• dbSNP Id: rs771577266
• MyVariant Identifiers: chr17:g.41209087T>G (hg19) ; chr17:g.43057070T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057070T>G , CM000679.2:g.43057070T>G	GRCh38
NC_000017.10:g.41209087T>G , CM000679.1:g.41209087T>G	GRCh37
NC_000017.9:g.38462613T>G	NCBI36
NG_005905.2:g.160914A>C , LRG_292:g.160914A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5256A>C	ENSP00000417241.2:p.Arg1752Ser
ENST00000470026.6:c.5259A>C	ENSP00000419274.2:p.Arg1753Ser
ENST00000473961.6:c.5133A>C	ENSP00000420201.2:p.Arg1711Ser
ENST00000476777.6:c.5253A>C	ENSP00000417554.2:p.Arg1751Ser
ENST00000477152.6:c.5181A>C	ENSP00000419988.2:p.Arg1727Ser
ENST00000478531.6:c.1947A>C	ENSP00000420412.2:p.Arg649Ser
ENST00000489037.2:c.5181A>C	ENSP00000420781.2:p.Arg1727Ser
ENST00000493919.6:c.1809A>C	ENSP00000418819.2:p.Arg603Ser
ENST00000494123.6:c.5259A>C	ENSP00000419103.2:p.Arg1753Ser
ENST00000497488.2:c.4371A>C	ENSP00000418986.2:p.Arg1457Ser
ENST00000618469.2:c.5259A>C	ENSP00000478114.2:p.Arg1753Ser
ENST00000634433.2:c.5136A>C	ENSP00000489431.2:p.Arg1712Ser
ENST00000644379.2:c.5325A>C	ENSP00000496570.2:p.Arg1775Ser
ENST00000644555.2:c.1809A>C	ENSP00000494614.2:p.Arg603Ser
ENST00000652672.2:c.5118A>C	ENSP00000498906.2:p.Arg1706Ser
ENST00000484087.6:c.1821A>C	ENSP00000419481.2:p.Arg607Ser
ENST00000357654.9:c.5259A>C MANE Select	ENSP00000350283.3:p.Arg1753Ser
ENST00000471181.7:c.5322A>C	ENSP00000418960.2:p.Arg1774Ser
ENST00000644379.1:c.1646A>C
ENST00000352993.7:c.1833A>C	ENSP00000312236.5:p.Arg611Ser
ENST00000357654.7:c.5259A>C	ENSP00000350283.3:p.Arg1753Ser
ENST00000461221.5:c.*5042A>C	ENSP00000418548.1:n.*5042A>C
ENST00000468300.5:c.1947A>C	ENSP00000417148.1:p.Arg649Ser
ENST00000471181.6:c.5322A>C	ENSP00000418960.2:p.Arg1774Ser
ENST00000491747.6:c.1947A>C	ENSP00000420705.2:p.Arg649Ser
ENST00000493795.5:c.5118A>C	ENSP00000418775.1:p.Arg1706Ser
ENST00000586385.5:c.189A>C	ENSP00000465818.1:p.Arg63Ser
ENST00000591534.5:c.732A>C	ENSP00000467329.1:p.Arg244Ser
ENST00000591849.5:c.-98-6880A>C	ENSP00000465347.1:n.-98-6880A>C
NM_007294.3:c.5259A>C , LRG_292t1:c.5259A>C	NP_009225.1:p.Arg1753Ser
NM_007297.3:c.5118A>C	NP_009228.2:p.Arg1706Ser
NM_007298.3:c.1947A>C	NP_009229.2:p.Arg649Ser
NM_007299.3:c.1947A>C	NP_009230.2:p.Arg649Ser
NM_007300.3:c.5322A>C	NP_009231.2:p.Arg1774Ser
NR_027676.1:n.5395A>C
NM_007294.4:c.5259A>C MANE Select	NP_009225.1:p.Arg1753Ser
NM_007297.4:c.5118A>C	NP_009228.2:p.Arg1706Ser
NM_007299.4:c.1947A>C	NP_009230.2:p.Arg649Ser
NM_007300.4:c.5322A>C	NP_009231.2:p.Arg1774Ser
NR_027676.2:n.5436A>C